Infant disease screening

Infant disease screening is neither an "excessive examination with an IQ tax" nor a "universal insurance that guarantees lifelong health after being screened" - its core value is to use an almost non-invasive and extremely low-cost method to advance the intervention window for congenital genetic and metabolic diseases from the "appearance of obvious symptoms" to within 72 hours of birth. The free programs mandated by the public health system are very cost-effective, and self-funded programs can be selected as needed. There is no need to go to the extreme of "full screening" or "no screening".

When I was rotating in the pediatric care department two years ago, the most regrettable case I encountered was a couple from the suburbs. When the hospital was born, the hospital asked them to collect heel blood for free screening for two diseases. They thought that the child looked so polished and there was nothing wrong with it, so they felt sorry for the child and ran away secretly after getting the injection. When the child was six months old, he kept vomiting milk, his hair gradually turned yellow, and he couldn't even lift his head. He was diagnosed with phenylketonuria. At that time, his brain had already suffered mild and irreversible damage. If it were screened at birth, he would be able to grow up like a normal child as long as he eats special formula milk powder, and there would be no problems at all.

There are a lot of arguments online about infant screening. On one side, parenting bloggers say, "Do all the projects at your own expense, so don't leave any regrets for your child." On the other side, people who have experienced it say, "All the free ones are useful, and all the self-payments are for the hospital to make money for you." Both of these opinions are actually a bit biased. The most anxious couple I have ever seen was a Kochi couple. They screened for more than 100 rare diseases, and it was found that their child was a carrier of an extremely rare lysosomal disease. The couple cried for three days holding the report, and went through domestic and foreign literature. Finally, after asking a geneticist, they found out that as long as the spouse of the future child does not carry the same disease-causing gene, he will not develop the disease at all, and their suffering for several days was purely in vain. On the other hand, some people feel that all self-pay is a scam. I once met a mother who was a carrier of the drug-induced deafness gene and refused to spend 300 yuan to test the deafness gene of her child. Later, when the child was over a year old and had a fever, she was given gentamicin and was permanently deafened. She obviously could have avoided it by checking, but she stepped on it.

When I usually give advice to parents in the outpatient clinic, I never just prescribe a bunch of tests. The free ones (coverage varies slightly in different regions, mostly including congenital hypothyroidism, phenylketonuria, congenital adrenocortical hyperplasia and hearing screening) are selected from the country’s incidence data for decades. The incidence rate is not low, and the cost of missed diagnosis is huge, and it is all free. Don’t feel bad about getting an acupuncture, it must be done. If you were born prematurely, had low birth weight, or had asphyxiation during birth, the doctor may ask you to postpone the test for a few days, or to re-screen later. Just follow the arrangement. Don't secretly skip this step yourself.

As for self-funded items, you really don’t need to buy them all. If your immediate family members have unexplained mental retardation, convulsions, or died in infancy, or you have given birth to a child with a metabolic disease before, you can spend three to four hundred yuan to get expanded screening for inherited metabolic diseases, which can check for thirty or forty more common metabolic diseases, which is very cost-effective. If there is a deaf patient in the family, or one of the spouses is a deafness gene carrier, a deafness genetic screening is much more effective than a simple hearing screening. Many children with late-onset deafness have passed the hearing screening at birth, but as long as they take aminoglycoside antibiotics, they will become deaf. After checking the gene, you can avoid such drugs for life, which is equivalent to giving the child a drug safety warning sign.

There is another point that many people don’t know. Having been screened does not mean that there is nothing wrong with it. There was a child who was initially screened for hypothyroidism, which was normal. However, when he was three months old, his weight had increased to less than a pound. He was lethargic every day and could not breastfeed. Only after a follow-up examination did he find out that he had hypothyroidism. It turns out that the thyroid function of some children gradually decreases after birth, and there was no abnormality at the time of the initial screening. So don’t just stuff the screening report in a drawer. If your child has difficulty feeding, vomits frequently, has abnormal skin color, or grows and develops much slower than other children of the same age after birth, quickly find the report and bring it to the pediatrician. Don’t just carry it.

To put it simply, baby screening is like the first basic health insurance you buy for your child. The free one is compulsory traffic insurance, which is mandatory, and the self-paid one is commercial insurance, which can be purchased as needed according to your family's situation. Don't panic when you hear what others say, and don't take chances just because your child looks healthy. After all, those two drops of heel blood and a few minutes of hearing screening may be exchanged for a smooth life for your child, and it's worth it no matter what.